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Motor Neurone Disease
Motor Neurone Disease (MND), also known as Amyotrophic Lateral Sclerosis (ALS), is a progressive and eventually fatal neurological condition, in which there is widespread muscle weakness and wasting caused by degeneration of the motor nerve cells in the brain and spinal cord. It can affect males and females, and usually comes on after the age of 50, although it can also occur in younger individuals.
Although motor neurone disease is a rare condition, it is estimated that more than 2000 people in Australia have the disease. Life expectancy after the diagnosis is made, is usually between 2 to 5 years and is shorter when the throat muscles are affected first. Survival can be longer in some individuals, such as the well-known and exceptional case of Stephen Hawking.
The condition can start in different parts of the body, and affects the muscles that enable us to move, and to speak, swallow and breathe. Early symptoms vary in different people, and include muscle cramps and twitches (‘fasciculations’), weakness of the hands or legs, which usually commences on one side of the body, and difficulty speaking or swallowing. As the disease progresses, it extends to other muscles and the weakness becomes more widespread.
There is no single test for the diagnosis of MND/ALS. Confirming the diagnosis usually involves examination by a neurologist and a series of tests including electromyography (EMG), and MRI scans and blood tests to exclude other causes for the symptoms.
The cause of MND/ALS is not known. The condition is usually sporadic, but in about 10% of cases it is familial. Many different genes have now been associated with the development of MND/ALS. The most common familial form is caused by mutations in the SOD-1 gene. In addition, common structural variants in many different genes are likely to contribute to the risk of developing MND/ALS, and are being investigated at the Perron Institute.
There is currently no cure for MND/ALS. However, intensive research is ongoing to develop neuroprotective therapies that will reverse or arrest the progression of the disease. Work at Perron is focussing on nucleic acid and peptide therapies and stem cells.
It is important that patients with MND/ALS should be reviewed regularly by their neurologist or general practitioner so that symptoms such as spasticity, pain, swallowing and breathing problems, excessive salivation and depression can be treated. Of particular importance is recognising the need for interventions such as dietary modification, assisted ventilation (CPAP), tracheostomy and percutaneous gastrostomy (PEG) in patients with swallowing and breathing difficulties, as well as provision of communication and orthotic appliances. Ongoing assessment and treatment should ideally be carried out in a multidisciplinary MND clinic. The Clinic at the Perron Institute provides continuing support for people with MND/ALS and access to necessary services such as diet therapy, speech therapy, physiotherapy, occupational therapy, respiratory medicine and palliative care.